Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700

2011
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014